E100K (p.Glu100Lys) variant of ERCC2 (P18074)
E100K (p.Glu100Lys) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- rs964247601
- ClinGen CA308973747
- cosmic curated COSV55540
- ClinVar RCV002442318
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.37
- AlphaMissense 0.06
- MetaLR 0.36
- MetaSVM -0.52
- CADD 20.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)